Hs00125066_cn

• Gene Symbol: SPG7
• Assay Reference Genome Location: Chr.16:89508402 on build GRCh38
• Cytoband: 16q24.3

Target Gene Details

• Entrez Gene ID: 6687
• Gene Name: SPG7, paraplegin matrix AAA peptidase subunit
• Gene Aliases: CAR, CMAR, PGN, SPG5C
• Location: Chr.16:89508379-89557768 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPG7	NM_003119.3			NP_003110.1
	NM_199367.2			NP_955399.1
	XM_005256321.4			XP_005256378.1
	XM_006721264.3			XP_006721327.1
	XM_017023597.1			XP_016879086.1
	XM_017023598.1			XP_016879087.1
	XM_017023599.1			XP_016879088.1
	BC036104.1			AAH36104.1
	BI827568.1	1	281
	DA770435.1
	DB482451.1
	HY006239.1
	Y16610.1			CAA76314.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3639584	Chr.16:89504768 - 89531669 on Build GRCh38	Loss	SPG7
esv2758670	Chr.16:89376499 - 89585740 on Build GRCh38	Gain	LOC101927817 SPG7 RPL13 ANKRD11 SNORD68 CPNE7
nsv428331	Chr.16:89216635 - 90185980 on Build GRCh38	Gain+Loss	TUBB3 CENPBD1 LOC107984817 ZNF778 ANKRD11 ZNF276 VPS9D1-AS1 CPNE7 SPIRE2 PRDM7 GAS8-AS1 DEF8 LOC100287036 URAHP LOC105371414 LOC101927817 DBNDD1 TCF25 FAM157C VPS9D1 CDK10 FANCA SPATA2L SNORD68 AFG3L1P SPG7 RPL13 DPEP1 SPATA33 GAS8 LOC105371419 TUBB8P7 MC1R CHMP1A
nsv471118	Chr.16:89446826 - 89600929 on Build GRCh38	Gain	LOC101927817 SPG7 RPL13 ANKRD11 SNORD68 CPNE7
nsv1063483	Chr.16:89347250 - 89661187 on Build GRCh38	Gain	LOC101927817 SPG7 RPL13 DPEP1 SPATA33 ANKRD11 SNORD68 CHMP1A CPNE7
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	APRT ANKRD11 CDH15 PABPN1L LINC00304 CDT1 LOC105371414 TCF25 CDK10 FANCA LOC105371409 SNORD68 GALNS MIR4722 SPG7 DPEP1 SPATA33 LOC400558 IL17C CYBA TUBB3 CENPBD1 LOC107984817 ZNF778 PIEZO1 LOC339059 ZNF276 VPS9D1-AS1 SNAI3 MVD ACSF3 CPNE7 CBFA2T3 SPIRE2 PRDM7 GAS8-AS1 LOC100129697 DEF8 LOC100287036 URAHP LOC101927817 DBNDD1 CTU2 LOC107987238 FAM157C VPS9D1 SPATA2L SNAI3-AS1 AFG3L1P SLC22A31 LOC101927793 RPL13 RNF166 TRAPPC2L GAS8 LOC105371419 TUBB8P7 MC1R LOC100289580 CHMP1A

More Information

Additional Information:

For this assay, SNP(s) [rs553241838] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

metalloprotease

Gene Ontology Categories:

Process(es)

proteolysis
mitochondrion organization
cell adhesion
nervous system development
anterograde axonal transport

Function(s)

ATP-dependent peptidase activity
metalloendopeptidase activity
protein binding
ATP binding
peptidase activity
zinc ion binding
unfolded protein binding